NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS

OBJECTIVE: Microcephalic primordial dwarfism (MPD) is a group of clinically and genetically heterogeneous disorders which result in severe prenatal and postnatal growth failure. X-ray repair cross-complementing protein 4 (XRCC4) is a causative gene for an autosomal recessive form of MPD. The objecti...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:AACE Clin Case Rep
Main Authors: Fredette, Meghan E., Lombardi, Kristin C., Duker, Angela L., Buck, Catherine O., Phornphutkul, Chanika, Bober, Michael B., Quintos, Jose Bernardo
Formato: Artigo
Idioma:Inglês
Publicado em: American Association of Clinical Endocrinologists 2019
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7279775/
https://ncbi.nlm.nih.gov/pubmed/32524007
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4158/ACCR-2019-0283
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados